Differences in Muscle Strength Performance According to the Genotypes of the rs4646994 Polymorphism of the ACE Gene in a Sedentary Population / Diferencias en el Rendimiento de la Fuerza Muscular Según los Genotipos del Polimorfismo rs4646994 del Gen ACE en una Población Sedentaria

SUMMARY: The angiotensin converting enzyme gene (ACE) has been associated with endurance and strength performance through its I/D polymorphism. Nevertheless, contradictory results exist between different populations. In this context, the purpose of this research was to determine the influence of the I/D polymorphism of the ACE gene on muscle strength in a sedentary Chilean sample. In this study 102 healthy male students (21.3 ± 2.2 years) completed the assessment. I/D genotyping, cardiovascular, anthropometric, grip strength and knee extensor peak strength were evaluated. The ACE polymorphism frequency was: II, 33.3 %; ID, 46.1 %; DD, 20.6 %. The results showed significant differences and large effect size in maximum (p = 0.004; d = 0.85) and relative handgrip strength (p = 0.004; d = 0.9) between genotype II vs DD. No difference was found for maximal or relative knee extensor strength between groups (p = 0.74), showing a low effect size (d = 0.20). In conclusion, this study provides insights into the role of the ACE gene in muscle strength and highlights the importance of investigating genetic variants in sedentary populations to better understand strength performance.

El gen de la enzima convertidora de angiotensina (ACE) se ha asociado con el rendimiento de resistencia y fuerza a través de su polimorfismo I/D. Sin embargo, existen resultados contradictorios entre diferentes poblaciones. En este contexto, el propósito de esta investigación fue determinar la influencia del polimorfismo I/D del gen ACE sobre la fuerza muscular en una muestra chilena sedentaria. En este estudio, fueron evaluados 102 estudiantes varones sanos (21,3 ± 2,2 años). Se realizaron aplicaron las siguientes evaluaciones: genotipado del polimorfismo I/D, cardiovascular, antropométrica, fuerza de prensión y fuerza máxima de extensión de rodilla. La frecuencia del polimorfismo I/D de ACE fue: II, 33,3 %; DNI, 46,1 %; DD, 20,6 %. Los resultados mostraron diferencias significativas y un gran tamaño del efecto en la fuerza máxima (p = 0,004; d = 0,85) y relativa de prensión manual (p = 0,004; d = 0,9) entre el genotipo II y el DD. No se encontraron diferencias en la fuerza máxima o relativa de los extensores de rodilla entre los grupos (p = 0,74), lo que muestra un tamaño de efecto bajo (d = 0,20). En conclusión, este estudio proporciona información sobre el papel del gen ACE en la fuerza muscular y destaca la importancia de investigar variantes genéticas en poblaciones sedentarias para comprender mejor el rendimiento de la fuerza.

Sprint and Anaerobic Power with the Soccer-Specific ACTN3 Gene: A Distintive Example / Sprint y Potencia Anaeróbica con el Gen ACTN3 Específico del Fútbol: Un Ejemplo Distintivo

SUMMARY: The aim of this study is twofold: (1) to identify differences in certain anaerobic parameters (10m sprint, 30m sprint, anaerobic power, and Illinois agility tests) between professional and amateur soccer players, and (2) to determine whether there is a difference in the ACTN3 gene polymorphism between professional and amateur soccer players. Ultimately, the goal is to reveal which parameters contribute to the differentiation in these two aspects. A total of 133 volunteer soccer players, including 71 professionals and 62 amateurs, participated in the research. DNA extraction from buccal epithelial cells was performed using a commercial kit to determine the genetic background of the athletes, and Real-Time PCR was conducted for genotyping. Statistical analysis of the findings obtained from the test results was performed using the SPSS 23 (SPSS Inc., Chicago, IL, USA) package program. The homogeneity of variance of the data was assessed using the Levene Test, and normal distribution analyses were conducted using the Shapiro-Wilk Test. Chi-square and Mann-Whitney U tests were employed for parameter analysis. The significance level was set at p0.05). However, there is a statistically significant difference in anaerobic parameters (10m sprint, 30m sprint, and anaerobic power) except for the Illinois test (p<0.05). In conclusion, our study found that gene polymorphism is not a differentiating factor between professional and amateur soccer players, but speed (10m and 30m) and anaerobic power parameters are differentiating factors.

Los objetivos de este estudio fueron: 1º identificar diferencias en ciertos parámetros anaeróbicos (sprint de 10 m, sprint de 30 m, potencia anaeróbica y pruebas de agilidad de Illinois) entre jugadores de fútbol profesionales y amateurs, y 2º determinar si existe una diferencia en el polimorfismo del gen ACTN3 entre jugadores de fútbol profesionales y aficionados. En definitiva, el objetivo fue revelar qué parámetros contribuyen a la diferenciación en estos dos aspectos. En la investigación participaron un total de 133 jugadores de fútbol voluntarios, incluidos 71 profesionales y 62 aficionados. La extracción de ADN de las células epiteliales orales se realizó utilizando un kit comercial para determinar los antecedentes genéticos de los atletas y se realizó una PCR en tiempo real para el genotipado. El análisis estadístico de los hallazgos obtenidos a partir de los resultados de las pruebas se realizó utilizando el programa de paquete SPSS 23 (SPSS Inc., Chicago, IL, EE. UU.). La homogeneidad de la varianza de los datos se evaluó mediante la prueba de Levene y los análisis de distribución normal se realizaron mediante la prueba de Shapiro-Wilk. Para el análisis de parámetros se emplearon las pruebas de Chi-cuadrado y U de Mann-Whitney. El nivel de significancia se fijó en p0,05). Sin embargo, existe una diferencia estadísticamente significativa en los parámetros anaeróbicos (sprint de 10 m, sprint de 30 m y potencia anaeróbica) excepto para la prueba de Illinois (p<0,05). En conclusión, nuestro estudio encontró que el polimorfismo genético no es un fac- tor diferenciador entre jugadores de fútbol profesionales y amateurs, pero sí los parámetros de velocidad (10 m y 30 m) y potencia anaeróbica.

Association of ABCB1 gene polymorphisms rs1128503, rs2032582, rs4148738 with anemia in patients receiving dabigatran after total knee arthroplasty / 中华创伤杂志(英文版)

PURPOSE@#Dabigatran is usually prescribed in recommended doses without monitoring of the blood coagulation for the prevention of venous thromboembolism after joint arthroplasty. ABCB1 is a key gene in the metabolism of dabigatran etexilate. Its allele variants are likely to play a pivotal role in the occurrence of hemorrhagic complications.@*METHODS@#The prospective study included 127 patients with primary knee osteoarthritis undergoing total knee arthroplasty. Patients with anemia and coagulation disorders, elevated transaminase and creatinine levels as well as already receiving anticoagulant and antiplatelet therapy were excluded from the study. The association of ABCB1 gene polymorphisms rs1128503, rs2032582, rs4148738 with anemia as the outcome of dabigatran therapy was evaluated by single-nucleotide polymorphism analysis with a real-time polymerase chain reaction assay and laboratory blood tests. The beta regression model was used to predict the effect of polymorphisms on the studied laboratory markers. The probability of the type 1 error (p) was less than 0.05 was considered statistically significant. BenjaminiHochberg was used to correct for significance levels in multiple hypothesis tests. All calculations were performed using Rprogramming language v3.6.3.@*RESULTS@#For all polymorphisms there was no association with the level of platelets, protein, creatinine, alanine transaminase, prothrombin, international normalized ratio, activated partial thromboplastin time and fibrinogen. Carriers of rs1128503 (TT) had a significant decrease of hematocrit (p = 0.001), red blood count and hemoglobin (p = 0.015) while receiving dabigatran therapy during the postoperative period compared to the CC, CT. Carriers of rs2032582 (TT) had a significant decrease of hematocrit (p = 0.001), red blood count and hemoglobin (p = 0.006) while receiving dabigatran therapy during the postoperative period compared to the GG, GT phenotypes. These differences were not observed in carriers of rs4148738.@*CONCLUSION@#It might be necessary to reconsider thromboprophylaxis with dabigatran in carriers of rs1128503 (TT) or rs2032582 (TT) polymorphisms in favor of other new oral anticoagulants. The long-term implication of these findings would be the reduction of bleeding complications after total joint arthroplasty.

Analysis of genetic polymorphisms and a novel tri-allelic cloning sequence for the D13S317 locus among an ethnic Han Chinese population / 中华医学遗传学杂志

OBJECTIVE@#To study the genetic polymorphisms of short-tandem repeats (STR) for the D13S317 locus among an ethnic Han Chinese population and verify a novel tri-allelic pattern identified for the locus.@*METHODS@#A total of 378 paternity test cases from Guangdong Forensic Authentication Institute from October 17, 2017 to December 28, 2017 were selected as the study subjects. A GlobalFilerTM Express kit was used for the STR genotyping. Samples suspected for having a novel tri-allelic pattern were verified with a PowerPlex 21 kit. Potential variant of the primer-binding region and flanking sequences underlying the tri-allelic pattern was excluded by molecular cloning and sequencing.@*RESULTS@#Six alleles were detected for the D13S317 locus, with the characteristic distribution frequencies being 8 (29.1%), 9 (13.1%), 10 (15.21%), 11 (24.21%), 12 (13.89%) and 13 (3.44%), respectively. In one of the families, the D13S317 locus of the proband was suspected to harbor a triband allele (8, 9, 10). A re-test has confirmed the result of initial test. Molecular cloning and sequencing analysis of the D13S317 locus in the proband and his daughter has failed to find allelic variants in the primer-binding region and flanking sequence, which has confirmed the novel tri-allelic pattern for the locus.@*CONCLUSION@#A novel type 2 tri-allelic pattern (8, 9, 10) at the D13S317 locus has been identified among the ethnic Han Chinese population. The pattern has not been transmitted to the female offspring, and has been included in the international STRBase database for the first time.

Associação entre polimorfismos genéticos, variáveis clínicas e sociodemográficas com diagnóstico de provável polineuropatia simétrica distal em crianças e adolescentes com diabetes tipo 1 / Association between genetic polymorphisms, clinical and sociodemographic variables with diagnosis of probable distal symmetric polyneuropathy in children and adolescents with type 1 diabetes

INTRODUÇÃO: A polineuropatia simétrica distal (PSD) é o tipo mais comum de neuropatia diabética (ND) e afeta tanto indivíduos com diabetes tipo 1 quanto tipo 2, mas a progressão e as manifestações são mais rápidas e graves em diabéticos tipo 1. Vários estudos demonstram que o controle glicêmico e a duração do diabetes são importantes fatores de risco para o desenvolvimento das ND, mas a velocidade da progressão e a gravidade das lesões nervosas variam consideravelmente entre indivíduos. Acredita-se, portanto, que haja implicações dos fatores genéticos no desenvolvimento da PSD porque alguns genes estão envolvidos em vias biológicas específicas, atuando em diferentes vias do processo patogênico. OBJETIVOS: Descrever as associações de polimorfismos genéticos, variáveis clínicas e sociodemográficas com provável diagnóstico de PSD em crianças e adolescentes diabéticas tipo 1 e identificar os polimorfismos C677T do gene MTHFR C677T e do VNTR do intron 3 do gene interleucina-4 (IL4) que possam estar associados a PSD. METODOLOGIA: Estudo descritivo observacional, do tipo seccional, em crianças e adolescentes com diabetes tipo1 que frequentam o Ambulatório de Diabetes, do Instituto de Puericultura e Pediatria Martagão Gesteira, nos períodos de março de 2017 a junho de 2019. As crianças e adolescentes com diagnóstico provável de PSD receberam orientações a partir de palestras e material bibliográfico. Foi utilizado um questionário estruturado, contendo informações clínicas e sociodemográficas; dois protocolos de avaliação da neuropatia diabética: Escore de Sintomas Neuropáticos e Diabetic Neuropathy Examination e avaliação da sensibilidade térmica, do reflexo aquileu e da sensibilidade protetora dos pés (avaliado através do monofilamento Semmes-Weistein - 10g). Foram colhidas amostras de saliva para extração do DNA e investigação do polimorfismo da enzima metilenotetrahidrofolato redutase (MTHFR C677T) e a da IL4 (A1A1, A1A2 e A2A2). Os dados foram analisados através do pacote estatístico EPI-Info (versão 7). RESULTADOS: A prevalência da PSD e da neuropatia sensorial foi de 14% e 42,71%, respectivamente. Nos participantes com genótipo A1A1 observamos associações entre PSD e aumento: da hemoglobina glicada, tempo de diabetes, peso, altura, IMC, colesterol total, LDL e HDL colesterol, triglicerídeos e VLDL. A alteração da sensibilidade térmica foi associada ao polimorfismo CC e ao CT. Não observamos associações estatísticas entre PSD e neuropatia sensorial com nenhum polimorfismo investigado. CONCLUSÕES: Não encontramos associação entre o polimorfismo C677T do gene MTHFR e o polimorfismo I3VNTR do gene IL4. No entanto, o estudo fornece outras associações e sugere possíveis implicações para esses achados. A falta de associação observada entre os polimorfismos investigados e a PSD podem ter sido influenciados pela falta de informações étnicas ou pela característica da população (crianças e adolescentes).(AU)

BACKGROUND: Distal symmetrical polyneuropathy (DSP) is the most common type of diabetic neuropathy (DN) and affects both patients with type 1 and type 2 diabetes, but progression and manifestations are more rapid and severe in type 1 diabetics. glycemic control and duration of diabetes are important risk factors for the development of DN, but the speed of progression and the severity of nerve damage vary considerably among patients. Therefore, it is believed that there are implications of genetic factors in the development of DSP because some genes are involved in specific biological pathways, acting in different pathways of the pathogenic process. OBJECTIVES: To describe the associations of genetic polymorphisms, clinical and sociodemographic variables with a probable diagnosis of DSP in type 1 diabetic children and adolescents and identify the C677T polymorphisms of the enzyme methylenetetrahydrofolate reductase (MTHFR gene) and the VNTR of intron 3 of the interleukin 4 (IL4) gene that may be associated with DSP. METHODS: A descriptive, observational, cross-sectional study was carried out in children with type 1 diabetes who attend the Diabetes Outpatient Clinic of the Instituto de Puericultura e Pediatria Martagão Gesteira, from March 2017 to June 2019. The. Saliva samples were collected for DNA extraction and investigation of the polymorphism of the MTHFR and that of IL4 (A1A1, A1A2 and A2A2). A structured questionnaire was used, containing clinical and sociodemographic information, two evaluation protocols for diabetic neuropathy, Neuropathic Symptom Score and Diabetic Neuropathy Examination and evaluation of thermal sensitivity, Achilles reflex and protective sensitivity of the feet (assessed using the Semmes- Weinstein - 10g). Children and adolescents with a probable diagnosis of DSP received guidance based on lectures and bibliographic material. Data were analyzed using the EPI-Info statistical package (version 7). RESULTS: The prevalence of DSP and sensory neuropathy was 14% and 42.71%, respectively. In patients with the A1A1 gene, we observed associations between DSP and increases in: glycated hemoglobin, duration of diabetes, weight, height, BMI, triglycerides, total cholesterol and LDL, HDL and VLDL cholesterol. The change in thermal sensitivity was associated with the CC and CT polymorphisms. We did not observe statistical associations between DSP and sensory neuropathy with any investigated polymorphism. CONCLUSIONS: We found no association between the C677T polymorphism of the MTHFR gene and the I3VNTR polymorphism of the IL4 gene. However, the study provides other associations and suggests possible implications for these findings. The absence of association observed between the polymorphisms investigated and DSP may have been influenced by the lack of ethnic information or by the characteristics of the population (children and adolescents).(AU)

Association between sleep quality and polymorphisms of the genes COMT, HTR2A and FKBP5 in individuals with and without dentofacial deformity

Sleep is a fundamental biological function, and any disturbances can lead to alterations in an individual's physical, occupational, cognitive, and social functioning. Aim: This study aimed to evaluate the quality of sleep and its association with factors such as age, sex, facial profile, and genetic polymorphisms in individuals who underwent dental treatment. Methods: The study comprised a total of 227 individuals. The "Sleep Assessment Questionnaire" was utilized to evaluate sleep quality. For the genetic assessment, oral mucosa cells were collected and markers from the COMT (rs174675, rs165656), HTR2A (rs4941573, rs6313), and FKBP5 (rs1360780, rs3800373) genes were selected for real-time PCR analysis. The data were subjected to statistical analysis with a significance level of 0.05. Results: The results showed that women had a poorer perception of sleep quality (p<0.05). There was a significant association between sleep quality and facial profile (p<0.05). Individuals with facial profiles I and II had a poorer perception of sleep quality in general and in the domains of non-restorative sleep, sleep time disturbance, and restlessness. Individuals with facial profile II had a poorer perception of sleep apnea than those with profile III (p=0.034). There was a significant association between the COMT rs174675 polymorphism and restlessness (p=0.035). Conclusion: The poorest perception of sleep quality was associated with women and individuals with facial profiles I and II. The poorest perception of restlessness was associated with COMT rs174675 polymorphism

Caracterización metabólica y frecuencia del polimorfismo I/D (rs4646994) del gen ACE1 en adultos con diagnóstico de diabetes de nueva aparición posterior a COVID-19 / Metabolic characterization and frequency of ACE1 gene I/D (rs4646994) polymorphism in adults diagnosed with new-onset diabetes after COVID-19

Evidencia reciente ha demostrado que el virus SARS-CoV-2 causante de la enfermedad COVID-19 puede producir daño directo al páncreas sugiriendo un posible efecto diabetógeno. El objetivo de este estudio de caso-control fue evaluar el perfil metabólico y determinar la frecuencia del alelo de riesgo del gen de la enzima convertidora de angiotensina (ACE1), en adultos con diabetes mellitus (DM) de nueva aparición post COVID-19. Se reclutaron 41 participantes (16 casos y 25 controles) de ambos sexos. Los casos fueron sujetos con DM de nueva aparición post COVID-19, de acuerdo con los criterios de la Asociación Americana de Diabetes (ADA). Los controles fueron sujetos con diagnóstico de COVID-19 pero sin DM. Se evaluó el estado nutricional, metabólico y la presencia del polimorfismo I/D del gen ACE1 en muestras de ADN genómico. Se encontró que el perfil metabólico de ambos grupos es similar, con un incremento significativo en los niveles de glicemia, hemoglobina glicosilada (Hb1Ac) y calcio sérico. No se encontraron diferencias en la detección del autoanticuerpo Anti-GAD65 y la frecuencia del polimorfismo I/D del gen de ACE1 no se encontró asociada a los casos de DM post COVID-19 en esta población. El estudio encontró que este polimorfismo no está asociado con la diabetes de nueva aparición post COVID-19, a pesar de las alteraciones metabólicas significativas observadas en los pacientes.

The SARS-CoV-2 virus causes COVID-19 disease. Evidence suggests that it can directly harm the pancreas, indicating a potential to cause diabetes. This study aimed to assess the metabolic profile and determine the frequency of the risk allele of the angiotensin-converting enzyme (ACE) gene in adults who developed new-onset diabetes mellitus (DM) after contracting COVID-19, compared to control subjects. Our study involved forty-one participants, including 16 cases and 25 controls of both sexes. The cases were individuals who developed new-onset diabetes after COVID-19, as per the American Diabetes Association (ADA) criteria, while the controls were individuals diagnosed with COVID-19 but without diabetes. We evaluated the nutritional and metabolic status of the participants, as well as the ACE1 gene I/D polymorphism in their genomic DNA samples, using a significance level of p<0.05 for statistical analyses. The metabolic profiles of both groups were similar, showing a significant increase in glycemia levels, glycosylated hemoglobin (Hb1Ac), and serum calcium. No differences were found in detecting Anti-GAD65 autoantibodies, and the ACE1 gene I/D polymorphism frequency was not associated with new-onset diabetes post-COVID-19 in this population. In conclusion, our study found that the ACE1 gene I/D polymorphism is not associated with new-onset diabetes post-COVID-19, despite the significant metabolic alterations observed in patients.

Avaliação da esteatose e da fibrose hepática em pacientes com psoríase: o papel do metotrexate, da síndrome metabólica, de fatores genéticos e a associação com o risco cardiovascular / Assessment of hepatic steatosis and fibrosis in patients with psoriasis: the role of methotrexate, metabolic syndrome, genetic factors and the association with cardiovascular risk

Introdução: Uma alta prevalência de doença hepática esteatótica metabólica (MASLD) tem sido descrita na psoríase. A influência da presença de fatores metabólicos, dos polimorfismos dos genes PNPLA3 e TM6SF2 e da dose acumulada de metotrexate (MTX) na progressão da doença esteatótica necessita melhor avaliação. O risco cardiovascular também é aumentado na MASLD e a presença de ateroesclerose subclínica pode representar um marcador do processo inflamatório que une os componentes da hipótese do eixo hepato-dérmico na psoríase. Objetivos: Avaliar o impacto dos polimorfismos dos genes PNPLA3 e TM6SF2, dos parâmetros metabólicos e da dose cumulativa de MTX na esteatose e fibrose hepática avançada em pacientes com psoríase. Avaliar a associação de esteatose e fibrose hepática avançada com ateroesclerose subclínica nestes pacientes. Métodos: Estudo transversal com inclusão prospectiva de pacientes ambulatoriais com psoríase, submetidos a análise clínica e laboratorial, elastografia hepática transitória (TE) com controlled atenuated parameter (CAP) com o equipamento FibroScan® (Echosens,Fr). Todos os pacientes realizaram a genotipagem para os polimorfismos PNPLA3/TM6SF2. A medida da velocidade de onda de pulso carótido-femoral (VOP-cf) foi adotada como medida de rigidez aórtica (rAO). A esteatose foi definida por CAP ≥275 dB/m, fibrose hepática avançada como rigidez hepática ≥10 kPa, aumento da rAo como VOP-cf ≥10m/s. Dose cumulativa significativa de metotrexato foi definida por ≥1500 mg (MTX1500). A análise de regressão logística avaliou as variáveis independentes relacionadas à esteatose e fibrose hepática avançada e ao aumento da rigidez aórtica; valor de p<0,05 foi considerado significativo. Resultados: Foram incluídos 199 pacientes (idade 54,6 ±12,6 anos, 57,3% mulheres). A prevalência de síndrome metabólica (SM), esteatose e fibrose hepática avançada foi de 55,8%, 54,8% e 9%, respectivamente. As frequências dos genótipos PNPLA3 e TM6SF2 foram CC 42,3%/CG 49,5%/GG 8,2% e CC 88,7%/ CT 11,3%/TT 0%. SM (OR3,01 IC95% 1,51- 5,98; p=0,002) e índice de massa corporal (OR1,17 IC95% 1,08-1,26; p<0,01) foram independentemente associados à esteatose. Diabetes Mellitus tipo 2 (DM2) (OR10,76 IC95% 2,42-47,87; p=0,002) e a presença de pelo menos um alelo PNPLA3 G (OR5,66 IC95% 1,08-29,52; p=0,039) foram associados à fibrose hepática avançada, mas não o polimorfismo TM6SF2 ou dose cumulativa de MTX. Para a análise das variáveis relacionadas com o aumento da rAo, um sub-grupo com 80 pacientes (idade 56,2±11,5 anos, 57,5% mulheres, IMC 28,6±5,3kg/m2), com prevalências de SM, DM2, dislipidemia, hipertensão arterial sistêmica, esteatose e fibrose hepática avançada de 57,5%, 40,0%, 67,5%, 70,0%, 50,0% e 16,3%, respectivamente, foi avaliado. Com relação ao tratamento da psoríase, 45% receberam dose de MTX≥1500 mg e 33,8%, tratamento imunobiológico. Neste grupo, a prevalência deVOP-cf≥10m/s foi de 21,2%. Na análise de regressão logística, a idade foi independentemente relacionada com o aumento da rAo (OR: 1,21; IC95%:1,06-1,38; p=0,003), mas não a esteatose ou fibrose hepática avançada. MTX1500 foi um fator protetor cardiovascular (OR: 0,18; IC95%: 0,038-0,87; p=0,033), mas não a terapia imunobiológica. Conclusões: Em indivíduos com psoríase, SM e DM2 conferem maiores chances de esteatose e fibrose avançada, respectivamente. O alelo PNPLA3 G, mas não o polimorfismo TM6SF2, impacta em risco 5 vezes maior de fibrose hepática avançada. O aumento da rAo é associado à idade, mas não à esteatose ou fibrose avançada. Um efeito cardiovascular protetor do MTX foi encontrado em uma população psoríase com alta prevalência de SM e seus componentes.(AU)

Introduction: A high prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) has been described in psoriasis. The influence of the presence of metabolic factors, PNPLA3 and TM6SF2 gene polymorphisms and the cumulative dose of methotrexate (MTX) on the progression of steatotic disease requires further evaluation. Cardiovascular risk is also increased in MASLD and the presence of subclinical atherosclerosis may represent a marker of the inflammatory process that joins the components of the hepato-dermal axis hypothesis in psoriasis. Objectives: To evaluate the impact of PNPLA3 and TM6SF2 gene polymorphisms, metabolic parameters and cumulative MTX dose on steatosis and advanced liver fibrosis in patients with psoriasis. To evaluate the association of steatosis and advanced fibrosis with subclinical atherosclerosis. Methods: Cross-sectional study with prospective inclusion of outpatients with psoriasis, submitted to clinical and laboratory analysis, transient elastography (TE) with controlled attenuated parameter (CAP), with FibroScan® (Echosens,Fr). All patients underwent genotyping for PNPLA3/TM6SF2 polymorphisms. The measurement of carotid-femoral pulse wave velocity (PWV-cf) was adopted as a measure of aortic stiffness (AoS). Steatosis was defined by CAP ≥275 dB/m, advanced liver fibrosis as liver stiffness ≥10 kPa, increased AoS as PWV-cf ≥10m/s. Significant cumulative dose of methotrexate was defined as ≥1500 mg (MTX1500). Logistic regression analysis evaluated the independent variables related to to steatosis and advanced liver fibrosis and increased AoS; p value <0.05 was considered significant. Results: 199 patients were included (age 54.6 ±12.6 years, 57.3% feminine). The prevalence of metabolic syndrome (MetS), steatosis and advanced liver fibrosis was 55.8%, 54.8% and 9%, respectively. The frequencies of the PNPLA3 and TM6SF2 genotypes were CC 42.3%/CG 49.5%/GG 8.2% and CC 88.7%/CT 11.3%/TT 0%. MetS (OR3.01 95% CI 1.51-5.98; p=0.002) and body mass index (OR1.17 95% CI 1.08-1.26; p<0.01) were independently associated with steatosis. Type 2 Diabetes Mellitus (DM2) (OR10.76 95% CI 2.42-47.87; p=0.002) and the presence of at least one PNPLA3 G allele (OR5.66 95% CI 1.08-29.52; p =0.039) were associated with advanced liver fibrosis, but not the TM6SF2 polymorphism or cumulative dose of MTX. To analyze the variables related to increased AoS, a sub-group with 80 patients (age 56.2±11.5 years, 57.5% feminine, BMI 28.6±5.3kg/m2), with prevalences of MetS, DM2, dyslipidemia, systemic arterial hypertension, steatosis and advanced liver fibrosis of 57.5%, 40.0%, 67.5%, 70.0%, 50.0% and 16.3%, respectively, was evaluated. Regarding psoriasis treatment, in this group, 45% received a dose of MTX≥1500 mg and 33.8%, immunobiological treatment. The prevalence of PWVcf≥10m/s was 21.2%. In the logistic regression analysis, age was independently related to increased AoS (OR: 1.21; 95% CI: 1.06-1.38; p=0.003), but not steatosis or advanced liver fibrosis. MTX1500 was a cardiovascular protective factor (OR: 0.18; 95% CI: 0.038-0.87; p=0.033), but not immunobiological therapy. Conclusions: In individuals with psoriasis, MetS and DM2 confer a greater risk for steatosis and advanced fibrosis, respectively. The PNPLA3 G allele, but not the TM6SF2 polymorphism, impacts a 5-fold increased risk of advanced liver fibrosis. Increased AoS is associated with age, but not with steatosis or advanced fibrosis. A protective cardiovascular effect of MTX was found in a psoriasis population with a high prevalence of MetS and its components.(AU)

Genetic variants of vitamin-D receptor genome and teeth caries susceptibility in Iraqi children / Variantes genéticas do genoma do recetor de vitamina D e suscetibilidade à cárie dentária em crianças iraquianas

Objective: To find out if there is a link between the TaqI, ApaI, BsmI, and FokI polymorphisms of the vitamin D receptor (VDR) and dental caries risk in Iraqi children. Material and Methods: The study had a sample of one hundred children, consisting of fifty males and fifty females, their mean age of 10.2 ± 1.21 years old. The study volunteers were categorized into two groups: a moderate caries risk group (DMFT, 1-4) consisting of 50 individuals, and a caries-free group including 50 individuals. Salivary samples were obtained from each participant, and subsequent DNA extraction was performed. The VDR gene was geno-typed using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. All data were subjected to statistical analysis using the chi square test, Fisher's exact test, and Odds ratios; results considered significant when (P<0.05). Results: A statistically significant difference was seen in the frequency of FokI genotypes (CC) between children with caries and those without caries (P<0.05). Individuals possessing the (CC) genotype had a 2.745-fold higher probability of being susceptible to dental caries with CI 95% of (1.077 - 6.996). While there were no significant differences (P>0.05) found between the TaqI, ApaI, and BsmI genotypes and cavities in the teeth. Conclusion: FokI (rs2228570) polymorphisms of the vitamin D receptor (VDR) showed an association with dental caries. VDR genetic variants may be employed in the future as a potential marker for identifying people at risk for caries when paired with environmental variables, as well as for caries prevention and treatment.(AU)

Objetivo: Descobrir se existe uma ligação entre os polimorfismos TaqI, ApaI, BsmI e FokI do recetor da vitamina D (VDR) e o risco de cárie dentária em crianças iraquianas. Material e Métodos: O estudo teve uma amostra de cem crianças, composta por cinquenta do sexo masculino e cinquenta do sexo feminino, com uma idade média de 10,2 ± 1,21 anos. Os voluntários do estudo foram categorizados em dois grupos: um grupo de risco moderado de cárie (CPO-D, 1-4), constituído por 50 indivíduos, e um grupo sem cárie, constituído por 50 indivíduos. Foram obtidas amostras salivares de cada participante e subsequente extração de DNA. O gene VDR foi genotipado utilizando a reação em cadeia da polimerase (PCR) e técnicas de polimorfismo de comprimento de fragmentos de restrição (RFLP). Todos os dados foram submetidos a análise estatística utilizando o teste do qui-quadrado, o teste exato de Fisher e Odds ratios; os resultados foram considerados significativos (P<0,05). Resultados: Foi observada uma diferença estatisticamente significativa na frequência dos genótipos FokI (CC) entre crianças com cárie e sem cárie (P<0,05). Os indivíduos que possuíam o genótipo (CC) tinham uma probabilidade 2,745 vezes maior de serem susceptíveis à cárie dentária com IC 95% de (1,077 - 6,996). Embora não tenham sido encontradas diferenças significativas (P>0,05) entre os genótipos TaqI, ApaI e BsmI e as lesões de cárie nos dentes.Conclusão: Os polimorfismos FokI (rs2228570) do recetor da vitamina D (VDR) mostraram uma associação com a cárie dentária. As variantes genéticas do VDR podem ser utilizadas no futuro como um potencial marcador para a identificação de pessoas em risco de cárie quando emparelhadas com variáveis ambientais, bem como para a prevenção e tratamento da cárie. (AU)

Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis

Abstract Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic role for this disorder. Little is known about the impact of germline genomic copy number variant (CNV) polymorphisms on the heredity of the disease. In this study, we describe a rare CNV identified in two sisters with familial endometriosis, which contain genes that may increase the susceptibility and progression of this disease. We investigated the presence of CNVs from the endometrium and blood of the sisters with endometriosis and normal endometrium of five women as controls without the disease using array-CGH through the Agilent 2x400K platform. We excluded common CNVs that were present in the database of genomic variation. We identified, in both sisters, a rare CNV gain affecting 113kb at band 3q12.2 involving two candidate genes: ADGRG7 and TFG. The CNV gain was validated by qPCR. ADGRG7 is located at 3q12.2 and encodes a G protein-coupled receptor influencing the NF-kappaβ pathway. TFG participates in chromosomal translocations associated with hematologic tumor and soft tissue sarcomas, and is also involved in the NF-kappa B pathway. The CNV gain in this family provides a new candidate genetic marker for future familial endometriosis studies. Additional longitudinal studies of affected families must confirm any associations between this rare CNV gain and genes involved in the NF-kappaβ pathway in predisposition to endometriosis.

Early and late-onset preeclampsia: effects of DDAH2 polymorphisms on ADMA levels and association with DDAH2 haplotypes

Abstract Objective: To examine whether the DDAH2 promoter polymorphisms -1415G/A (rs2272592), -1151A/C (rs805304) and -449G/C (rs805305), and their haplotypes, are associated with PE compared with normotensive pregnant women, and whether they affect ADMA levels in these groups. Methods: A total of 208 pregnant women were included in the study and classified as early-onset (N=57) or late-onset PE (N =49), and as normotensive pregnant women (N = 102). Results: Pregnant with early-onset PE carrying the GC and GG genotypes for the DDAH2 -449G/C polymorphism had increased ADMA levels (P=0.01). No association of DDAH2 polymorphisms with PE in single-locus analysis was found. However, the G-C-G haplotype was associated with the risk for late-onset PE. Conclusion: It is suggested that DDAH2 polymorphisms could affect ADMA levels in PE, and that DDAH2 haplotypes may affect the risk for PE.

Human visceral leishmaniasis and polymorphisms in interleukin-coding genes: a systematic review

Visceral leishmaniasis (VL) is a neglected disease that is typical of tropical and subtropical parts of the world and is caused by the trypanosomatid Leishmania donovani complex. This disease is a multifactorial condition that involves parasitic, environmental, and immunogenetic characteristics. Genetic changes in genes encoding cytokines may be associated with changes in their expression and, consequently, with the development of clinical resistance or susceptibility to the disease. This systematic review and meta-analysis aimed to assess whether single nucleotide polymorphisms (SNPs) in interleukin genes influence the clinical consequences of visceral leishmaniasis infection. To this end, we carried out a systematic review and meta-analysis with structured searches in the EMBASE, PubMed, Scopus, SciELO, and Web of Science databases without time restrictions. Two independent reviewers examined the studies, performed data extraction, and assessed quality by assigning scores. If there were any discrepancies, a third reviewer with more experience was consulted. After the screening process, 28 articles were included in the systematic review and 9 in the final analysis of the meta-analysis. Statistical analyses were carried out using various genetic models. The odds ratio (OR) and corresponding 95% confidence intervals (CIs) were calculated to estimate the associations. Overall, the main clinical outcomes were classified as not associated or associated when they presented susceptibility, resistance, risk, or protective factors for the development of the disease. Associations between IFN-γ +874T/A polymorphisms in the dominant model (OR 1.64, 95% CI 1.13-2.38, I2 = 0%, p < 0.01) and heterozygous model (OR 1.72, 95% CI 1.15-2.57, I2 = 0%, p < 0.01) and IL-18 -137G/C in the recessive model (OR 1.33, 95% CI 1.02-1.71, I2 = 9%, p = 0.03) and VL were observed. For the IL-10 gene SNPs, there was no significant association. Our findings suggest that SNPs in the IFN-γ and IL-18 genes may be associated with the risk of developing VL.

The Distinguishing Factor in Soccer Players is Aerobic Performance, not the ACTN3 Gene / El Factor Distintivo en los Jugadores de Fútbol es el Rendimiento Aeróbico y no el gen ACTN3

SUMMARY: The purpose of this study was to reveal the differences between ACTN3 genotype (RR, RX, XX) and aerobic performance [Yo-Yo IRT1 (m), VO2 max (ml/kg/min)] in professional and regional amateur league soccer players and to reveal which of these parameters was a distinctive factor in these athletes.71 professional soccer players (age: 23.66 ± 4.11 years; body height: 1.79 ± 6.99 m; body weight: 76.02 ± 6.76 kg; body fat: 11.59±3.11 %) and 62 regional amateur soccer players (age: 23.63 ±3.77 years; body height: 1.81 ± 5.77 m; body weight: 76.36 ± 7.53 kg; body fat: 15.60±4.65 %) volunteered for the study. After DNA extraction from buccal epithelial cells via a commercial kit was performed for the genetic background of the athletes, Real-Time PCR was carried out for genotyping. Furthermore, Yo-Yo IRT1 test was performed to determine the aerobic performance of the soccer players. SPSS 23 (SPSS Inc., Chicago, IL, USA) package program was used for the statistical analysis of the data obtained in the tests. Shapiro-Wilk test for normality and Levene's test for homogeneity of variance were performed. Chi-Square, Independent Sample T Test and One Way ANOVA test were used in the analysis of the parameters. Statistical significance was set as p0.05); however, there was a statistical significance in favor of professional soccer players in terms of aerobic parameters (p<0.05). Consequently, it can be said that aerobic performance is the distinguishing factor, not the ACTN3 gene, in soccer players.

El objetivo de este estudio fue revelar las diferencias entre el genotipo ACTN3 (RR, RX, XX) y el rendimiento aeróbico [Yo-Yo IRT1 (m), VO2 max (ml/kg/min)] en jugadores de fútbol de ligas profesionales y amateurs regionales y determinar cuál de estos parámetros es un factor distintivo en estos deportistas. 71 futbolistas profesionales (edad: 23,66 ±4,11 años; altura corporal: 1,79 ± 6,99 m; peso corporal: 76,02 ± 6,76 kg; grasa corporal: 11,59±3,11 %) y 62 jugadores de fútbol amateur regionales (edad: 23,63 ± 3,77 años; altura corporal: 1,81 ± 5,77 m; peso corporal: 76,36 ± 7,53 kg; grasa corporal: 15,60 ± 4,65 %) se ofrecieron como voluntarios para el estudio. Después de realizar la extracción de ADN de las células epiteliales orales mediante un kit comercial para obtener los antecedentes genéticos de los atletas, se llevó a cabo una PCR en tiempo real para el genotipado. Además, se realizó la prueba Yo-Yo IRT1 para determinar el rendimiento aeróbico de los futbolistas. Para el análisis estadístico de los datos obtenidos en las pruebas se utilizó el programa SPSS 23 (SPSS Inc., Chicago, IL, EE. UU.). Se realizó la prueba de normalidad de Shapiro- Wilk y la prueba de homogeneidad de la varianza de Levene. En el análisis de los parámetros se utilizaron Chi-cuadrado, prueba T para muestra independiente y prueba ANOVA unidireccional. La significancia estadística se estableció en p0,05); sin embargo, hubo significación estadística a favor de los futbolistas profesionales en cuanto a los parámetros aeróbicos (p<0,05). En consecuencia, se puede decir que el rendimiento aeróbico es el factor distintivo, no el gen ACTN3, en los jugadores de fútbol.

Análisis de los polimorfismos ECA y ACTN3 con la agilidad en seleccionados nacionales de deportes de conjunto de Costa Rica. Estudio piloto / ACE and ACTN3 polymorphisms analysis on agility test in national players in team sports of Costa Rica. Pilot study / Análise dos polimorfismos ECA e ACTN3 com agilidade em jogadores esportivos selecionados da seleção costarriquenha. Estudo piloto

Resumen: Objetivo: Analizar las diferencias de los polimorfismos de los genes ECA y ACTN3 en el rendimiento de una prueba de agilidad en jugadores élite de deportes colectivos pertenecientes a selecciones nacionales de Costa Rica. Metodología: Se contó con una muestra de 33 jugadores hombres, de deportes colectivos (fútbol sala, rugby, voleibol y balonmano). Para la evaluación de la agilidad se utilizó el test de Illinois. Se realizaron dos visitas, en la primera se obtuvo muestras de células por medio de un enjuague y en la segunda se aplicó la prueba de agilidad. Se utilizó la prueba de Chi-cuadrado (X2) para conocer las diferencias entre las frecuencias de los polimorfismos de los genes ECA y ACTN3 y el tipo de deporte. Resultados: La mayor distribución de los polimorfismos del gen ECA, de jugadores de selecciones nacionales de deportes de conjunto, se encuentra en el ID (X2= 6.87, p= .334) y en ACTN3 el RX (X2= 6.33, p= .388). Además, tampoco se encontraron diferencias significativas entre el tiempo efectuado en el test de Illinois y los polimorfismos del gen ECA (F= 2.150, p= .134), de igual forma para los polimorfismos del gen ACTN3 (F= .950, p= .339). Conclusiones: Los polimorfismos de los genes ECA y ACTN3 no se relacionaron estadísticamente con el tipo de deporte colectivo. La agilidad no se ve asociada por un tipo de polimorfismo, lo que indica que, de forma independiente al gen, esta cualidad física se puede entrenar y generar buenos resultados en la población en general.

Abstract: Objective: To analyze the differences in the polymorphisms of the ACE and ACTN3 genes on agility test performance in elite players of collective sports from National teams of Costa Rica. Methods: a sample of 33 male team sports players (futsal, rugby, volleyball, and handball). All subjects were tested with the Illinois Agility Test. Two days of measurements were made; on the first day, cell samples were obtained and on the second day, the agility test was applied. The Chi-square test (x2) was used to determine the differences between the frequencies of the polymorphisms of the ACE and ACTN3 genes and the type of sport. Results: The highest distribution of polymorphisms of the ECA gene of players from national teams of collective sports was found in the ACE ID (X2 = 6.87, p = .334), and in ACTN3 the RX (X2 = 6.33, p =. 388). Furthermore, no significant relationship was found between the Illinois test performance and the polymorphisms of the ECA gene (F = 2,150, p = .134). Conclusions: The ACE and ACTN3 genes polymorphisms were not statistically related to the type of team sport. Agility is not associated with the type of polymorphism, which indicates that regardless of the gene, this physical quality can be trained and generate good results in the general population.

Resumo: Objetivo: analisar as diferenças dos polimorfismos dos genes ECA e ACTN3 na realização de um teste de agilidade em jogadores de elite de equipes esportivas pertencentes a equipes nacionais costarriquenhas. Metodologia: foi utilizada uma amostra de 33 jogadores de futebol masculino (futsal, rúgbi, vôlei e handebol). O teste de Illinois foi usado para avaliar a agilidade. Foram feitas duas visitas; na primeira foram obtidas amostras de uma célula por lavagem e na segunda foi aplicado o teste de agilidade. O teste qui-quadrado (X2) foi usado para determinar as diferenças entre as frequências dos polimorfismos dos genes ECA e ACTN3 e o tipo de esporte. Resultados: A maior distribuição de polimorfismos do gene ECA em jogadores de equipes nacionais de esportes coletivos é encontrada no ID (X2= 6,87, p= 0,334) e no ACTN3 no RX (X2= 6,33, p= 0,388). Além disso, não foram encontradas diferenças significativas entre o tempo gasto no teste de Illinois e os polimorfismos do gene ECA (F= 2,150, p= 0,134), assim como para os polimorfismos do gene ACTN3 (F= 0,950, p= 0,339). Conclusões: Os polimorfismos dos genes ECA e ACTN3 não estavam estatisticamente relacionados com o tipo de esporte coletivo. A agilidade não está associada pelo tipo de polimorfismo, indicando que, independentemente do gene, essa qualidade física pode ser treinada e gerar bons resultados na população em geral.

Genetic Polymorphisms in COL1A2 gene and the Risk of Tendinopathy: Case-Control Study / Polimorfismos genéticos no gene COL1A2 eo risco de tendinopatia: Estudo de caso-controle

Abstract Objective To evaluate the influence of polymorphisms on genes encoding type I collagen and the genetic susceptibility of tendinopathy. Methodology Case-control study involving 242 Brazilian athletes from different sports modalities (55 cases of tendinopathy and 187 controls). The polymorphisms COLIAI (rs1107946) and COLIA2 (rs412777, rs42524, and rs2621215) were analyzed by theTaqMansystem. Odds ratio(OR)withtheir 95% confidence intervals (CIs) were calculated using a nonconditional logistic regression model. Results The mean age was 24.0 ± 5.6 years old and 65.3% were men. Of the 55 cases of tendinopathy, 25.4% had > 1 affected tendon, the most frequent being patellar (56.3%), rotator cuff (30.9%) and elbow or hand flexors (30.9%). Age and amount of time of sports practice were associated with a higher chance of presenting tendinopathy (5 and 8 times, respectively). The frequency of variant alleles in control and case patients, respectively, was: COLIAI rs1107946 24.0 and 29.6%; COLIA2 rs412777 36.1 and 27.8%; rs42524 17.5 and 25.9%; and rs2621215 21.3 and 27.8%. After adjusting for confounding factors (age and years of sports practice), COLIA2 rs42524and rs2621215 polymorphisms were associated with increased risk of tendinopathy (OR = 5.5; 95% CI = 1.2-24.6 and OR = 3.9; IC95% = 1.1-13.5, respectively). The haplotype COLIA2 CGT was associated with low risk for disease development (OR = 0.5; 95%CI = 0.3-0.9). Conclusion Age (≥ 25 years old), time of sports practice (≥ 6years) and polymorphisms in the COLIA2 gene increased the risk of developing tendinopathy.

Resumo Objetivo Avaliar a influência de polimorfismos nos genes que codificam o colágeno tipo I e a suscetibilidade genética da tendinopatia. Metodologia Estudo caso-controle envolvendo 242 atletas brasileiros de diferentes modalidades esportivas (55 casos de tendinopatia e 187 controles). Os polimorfismos COL1A1 (rs1107946) e COL1A2 (rs412777, rs42524 e rs2621215) foram analisados pelo sistema TaqMan. As razões de chance (OR) com seus intervalos de confiança (IC) de 95% foram calculadas usando um modelo de regressão logística não-condicional. Resultados A média de idade foi de 24,0 ± 5,6 anos e 65,3% eram homens. Dos 55 casos de tendinopatia, 25,4% apresentaram mais de um tendão acometido, sendo os maisfrequentesopatelar(56,3%),omanguitorotador(30,9%)eodocotoveloou flexores das mãos (30,9%). A idade e o tempo de prática esportiva foram associados a uma maior chance de apresentar tendinopatia (5 e 8 vezes, respectivamente). A frequência dos alelos variantes nos controles e casos, respectivamente, foi: COL1A1 rs1107946 24,0 e 29,6%; COL1A2 rs412777 36,1 e 27,8%; rs42524 17,5 e 25,9%; e rs2621215 21,3 e 27,8%. Após ajuste pelos fatores de confundimento (idade e anos de práticas esportiva), os polimorfismos COL1A2 rs42524 e rs2621215 foram associados a um risco aumentado de tendinopatia (OR = 5,5; IC95% = 1,2-24,6 e OR = 3,9; IC95% = 1,1-13,5, respectivamente). O haplótipo COL1A2 CGT foi associado a um baixo risco para desenvolvimento da doença (OR = 0,5; IC95% = 0,3-0,9). Conclusão Aidade (> 25 anos), o tempo de prática esportiva (> 6 anos) e polimorfismos no gene COL1A2 aumentaram o risco de desenvolvimento da tendino-patia.

Respiratory muscles: structure, function and relationship with the ACE gene: a brief morphofunctional communication / Músculos respiratorios: estructura, función y relación con el gen de la ECA: una breve comunicación morfofuncional

SUMMARY: Pulmonary ventilation is a mechanical process in which the respiratory muscles act in coordination to maintain the oxygenation of the organism. Any alteration in the performance of these muscles may reduce the effectiveness of the process. The respiratory muscles differ from the other skeletal muscles in the vital support that they provide through rhythmiccontractions. The structure and energy system of the muscles are specially adapted to perform this function. The composition of the respiratory muscles is exceptional; they are small, and present an abundant capillary network, endowing them with a high aerobic level and resistance to fatigue. Coordinated regulation of the local renin-angiotensin system provides proper blood flow and energy supply in the myofibrils of the skeletal muscle tissue. Specifically, this performance will depend to a large extent on blood flow and glucose consumption, regulated by the renin-angiotensin system. The angiotensin converting enzyme is responsible for degrading kinins, which finally regulate muscle bioenergy and glucose between the blood vessel and the skeletal muscle. The objective of this review is to describe the structure of the respiratory muscles and their association with the angiotensin converting enzyme gene.

La ventilación pulmonar es un proceso mecánico en el que los músculos respiratorios actúan coordinadamente para mantener la oxigenación en el organismo. Así, cualquier alteración en el desempeño de estos músculos puede reducir la efectividad del proceso. Los músculos respiratorios se diferencian de otros músculos esqueléticos, debido al apoyo vital que brindan a través de sus contracciones rítmicas. La estructura y el sistema energético de estos músculos están especialmente adaptados para realizar esta función. La composición de los músculos respiratorios es especial; son pequeñas y presentan una abundante red capilar, lo que les otorga un alto nivel aeróbico y resistencia a la fatiga. La regulación coordinada del sistema renina-angiotensina local, proporciona un adecuado flujo sanguíneo y suministro de energía a las miofibrillas del músculo esquelético. En concreto, este rendimiento dependerá en gran medida del flujo sanguíneo y del consumo de glucosa, regulado por el sistema renina-angiotensina. Aquí, la enzima convertidora de angiotensina es responsable de degradar las kininas, que finalmente regulan la bioenergía muscular y la glucosa entre el vaso sanguíneo y el músculo esquelético. El objetivo de esta breve comunicación es describir la estructura de los músculos respiratorios y su asociación con el gen de la enzima convertidora de angiotensina.

FcγRIIa and Fcγ RIIIa genes polymorphism in Egyptian children with primary immune thrombocytopenia

Abstract Introduction Phagocytosis of autoantibody-sensitized coated platelets through Fc gamma receptors on phagocytic cells is an important mechanism of thrombocytopenia in primary immune thrombocytopenia (ITP). Objective We aimed to investigate the contribution of the FcγRIIa and FcγRIIIa genes polymorphism to the risk of ITP and their association with disease characteristics in Egyptian children. Methods A case control study was conducted on eighty children with primary ITP and eighty age and sex healthy matched subjects as a control group. The FcγRIIa and FcγRIIIa genes polymorphism was detected using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results We found that the FcγRIIa‐131H and ‐131R allele frequencies were 51.3 % and 48.7%, respectively, in children with ITP, versus 75% and 25%, respectively, in controls (p= 0.002). The compound heterozygous HR genotype was significantly higher in ITP patients (p < 0.05). The FcγRIIIa-158F and ‐158V allele frequencies were 46.3% and 53.7%, respectively, in children with ITP, versus 70% and 30%, respectively, in controls (p= 0.002). The compound heterozygous VF genotype was significantly higher in ITP patients (p < 0.05). The combined HR/FV genotype was 47.5% in ITP patients, versus 10% in controls (p < 0.001). No significant difference was found between children with newly diagnosed ITP and those who developed chronic ITP, regarding the frequency distribution of the FcγRIIa and FcγRIIIa alleles and genotypes (p > 0.05). Conclusion There is a possible association of the FcγRIIa and FcγRIIIa genes polymorphism with the risk for, and genetic susceptibility to ITP in Egyptian children, but large-scale studies are still needed to support our findings.

Association of Fokl polymorphism of the VDR gene with systemic lupus erythematosus in an adolescent population of the Colombian Caribbean

Introduction: Vitamin D and vitamin D receptor (VDR) polymorphisms are associated with autoimmune diseases including systemic lupus erythematosus (SLE). The aim of this study is to assess the genetic association between VDR polymorphisms: TaqI, ApaI, Bsml and FokI and SLE with serum levels of Vitamin D in the Colombian Caribbean population. Method: Case and control study. One hundred and thirty-three patients with SLE and 100 healthy individuals were included. VDR polymorphism were genotyped by RT-PCR and Taqman® probes. Allelic, genotypic and haplotype associations were estimated. Serum vitamin D concentrations were quantified by Elisa. Values of 30 to 100ng/ml were established as a normal reference range. P values <.05 were considered statistically significant. Results: A high prevalence of SLE was observed in women (94%) and was associated with a higher risk of SLE [OR: 10.8; 95% CI: 4.7-24.6] (p<.05). Moreover, higher risk of SLE was observed in individuals with FokI VDR [rs2228570] [OR: 1.58; 95% CI: 1.05-2.36] in allelic models. The ACCA Haplotype of TaqI/ApaI/Bsml/FokI polymorphisms was associated with higher risk of SLE [OR = 2.28, 95% CI = 1.12-4.66, psim <.01]. Vitamin D deficiency was evidenced in 11.3% of the patients. Conclusion: In this study, the VDR rs2228570 polymorphism and ACCA haplotype were associated with higher SLE risk in an adolescent population.

Introducción: La vitamina D y los polimorfismos en el receptor de vitamina D (VDR) se asocian con enfermedades autoinmunes, incluido el lupus eritematoso sistémico (LES). El objetivo de este estudio es analizar la asociación genética entre los polimorfismos de VDR (Taql, Apal, Bsml y Fokl) y la susceptibilidad al LES, así como su relación con los niveles séricos de vitamina D en población del Caribe colombiano. Metodología: Estudio de casos y controles. Se incluyeron 133 pacientes adultos con diagnóstico de LES y 100 individuos sanos. Los polimorfismos VDR fueron genotipados por RT-PCR y sondas Taqman®. Se estimaron asociaciones alélicas, genotípicas y haplotípicas. Las concentraciones séricas de vitamina D fueron cuantificadas por Elisa. Se establecieron valores de 30 a 100ng/ml como rango normal de referencia. Valores p<0,05 fueron considerados estadísticamente significativos. Resultados: Se observó una alta prevalencia de LES en pacientes femeninas (94%) y se asoció a mayor riesgo de LES (OR: 10,8; IC95%: 4,7-24,6; p < 0,05). Se evidenció mayor riesgo de LES en individuos con polimorfismo Fokl del gen VDR [rs2228570] (OR: 1,58; IC95%: 1,05-2,36) en modelos alélicos. El haplotipo ACCA de los polimorfismos Taql, Apal, Bsml y Fokl se asoció a mayor riesgo de LES (OR: 2,28, IC95%: 1,12-4,66; psim<0,01). Se evidenció deficiencia de vitamina D en el 11,3% de los pacientes. Conclusión: En este estudio, el polimorfismo VDR rs2228570 y el haplotipo ACCA se asociaron a mayor riesgo de LES en población adolescente.

Association of circulating levels of soluble PD-1, PD-1 gene polymorphisms with HBV infection and HBV infection-associated hepatocellular carcinoma / 中华预防医学杂志

Objective: To investigate the association of circulating sPD-1 level and PD-1 gene polymorphisms with HBV infection and HBV infection-associated hepatocellular carcinoma. Methods: A case-control study was conducted. A total of 237 chronic HBV infection cases and 138 HBV infection-associated hepatocellular carcinoma in the Department of Infectious Diseases of the First Hospital of Shanxi Medical University from 2018 to 2021 were selected as the case group. About 250 individuals who visited a hospital physical examination center for routine physical examination during the same period were selected as the control group. Plasma sPD-1 levels were measured by using an ELISA kit and genotyping was performed by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The association of sPD-1 levels and PD-1 polymorphisms with HBV infection as well as HBV infection-associated hepatocellular carcinoma was analyzed by using logistic regression models after adjusting for age, sex, alcohol consumption, smoking, ALT and AST levels. The sPD-1 level and PD-1 polymorphisms were independent variables, and HBV infection was the dependent variable. Results: The age of 237 chronic HBV infections, 138 HBV infection-related liver cancer case subjects and 250 control subjects in the study was (49.1±10.8), (51.9±12.7) and (50.7±11.9) years, respectively. Multivariate logistic regression model analysis showed that with a 1 pg/ml increase in sPD-1 level, the OR (95%CI) values for the risk of incident HBV infection cases and HBV hepatocellular carcinoma cases were 1.92 (1.68-2.19) and 2.02 (1.69-2.40). For rs2227981, compared with the CC genotype, the TT genotype had a lower risk of HBV infection and liver cancer associated with HBV infection, with OR (95%CI) values of 0.45 (0.22-0.91) and 0.35 (0.14-0.91). For rs2227982, compared with the CC genotype, the CT and TT genotypes also had a lower risk of HBV infection [OR (95%CI) values of 0.72 (0.53-0.97) and 0.57 (0.35-0.93)] and HBV infection-related liver cancer [OR (95%CI) values of 0.64 (0.45-0.92) and 0.52 (0.29-0.93)]. Conclusions: Plasma sPD-1 levels and PD-1 gene polymorphisms are associated with HBV infection and HBV infection-associated hepatocellular carcinoma.

Establishment of PCR assays and genetic polymorphism analysis of genes encoding Clostridium perfringens β2 toxin from different sources / 中华流行病学杂志

Objective: To establish and optimize PCR methods for the gene encoding of Clostridium perfringens β2 toxin (cpb2) and atypical-cpb2 (aty-cpb2), analyze the epidemiological characteristics and genetic polymorphism of the cpb2 of Clostridium perfringens in 9 Chinese areas from 2016 to 2021. Methods: The cpb2 of 188 Clostridium perfringens strains were examined by PCR; the cpb2 sequences were acquired by whole-genome sequencing to analyze the genetic polymorphism. Using Mega 11 and the Makeblastdb tool, a phylogenetic tree, and cpb2-library based on 110 strains carrying the cpb2 were produced. Using the Blastn technique, a comparison was made to discover sequence similarity between consensus-cpb2 (con-cpb2) and aty-cpb2. Results: The specificity of PCR assay for the cpb2 and aty-cpb2 was verified. The PCR results for cpb2 amplification were highly consistent with the whole-genome sequencing approach (Kappa=0.946, P<0.001). A total of 107 strains from nine regions in China carried cpb2, 94 types A strains carried aty-cpb2, 6 types A strains carried con-cpb2, and 7 types F strains carried aty-cpb2. The nucleotide sequence similarity between the two coding genes was 68.97%-70.97%, and the similarity between the same coding genes was 98.00%-100.00%. Conclusions: In this study, a specific PCR method for cpb2 toxin was developed, and the previous PCR method for detecting aty-cpb2 was improved. aty-cpb2 is the primary gene encoding of β2 toxin. There is a significant nucleotide sequence variance between the various cpb2 genotypes.